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    TMPRSS2 transmembrane serine protease 2 [ Homo sapiens (human) ]

    Gene ID: 7113, updated on 14-Oct-2019

    Summary

    Official Symbol
    TMPRSS2provided by HGNC
    Official Full Name
    transmembrane serine protease 2provided by HGNC
    Primary source
    HGNC:HGNC:11876
    See related
    Ensembl:ENSG00000184012 MIM:602060
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    PP9284; PRSS10
    Summary
    This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a type II transmembrane domain, a receptor class A domain, a scavenger receptor cysteine-rich domain and a protease domain. Serine proteases are known to be involved in many physiological and pathological processes. This gene was demonstrated to be up-regulated by androgenic hormones in prostate cancer cells and down-regulated in androgen-independent prostate cancer tissue. The protease domain of this protein is thought to be cleaved and secreted into cell media after autocleavage. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
    Expression
    Biased expression in prostate (RPKM 167.2), colon (RPKM 59.9) and 10 other tissues See more
    Orthologs

    Genomic context

    See TMPRSS2 in Genome Data Viewer
    Location:
    21q22.3
    Exon count:
    15
    Annotation release Status Assembly Chr Location
    109.20190905 current GRCh38.p13 (GCF_000001405.39) 21 NC_000021.9 (41464305..41508158, complement)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 21 NC_000021.8 (42836236..42880085, complement)

    Chromosome 21 - NC_000021.9Genomic Context describing neighboring genes Neighboring gene MX dynamin like GTPase 2 Neighboring gene MX dynamin like GTPase 1 Neighboring gene transmembrane protease serine 2 breakpoint cluster recombination region Neighboring gene uncharacterized LOC105372809 Neighboring gene prostate cancer expressed EZH2 associated transcript Neighboring gene uncharacterized LOC105372812

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A meta-analysis of 87,040 individuals identifies 23 new susceptibility loci for prostate cancer.
    NHGRI GWA Catalog
    Genome-wide association study combining pathway analysis for typical sporadic amyotrophic lateral sclerosis in Chinese Han populations.
    NHGRI GWA Catalog

    Pathways from BioSystems

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Clone Names

    • FLJ41954

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    scavenger receptor activity IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type endopeptidase activity IEA
    Inferred from Electronic Annotation
    more info
     
    serine-type peptidase activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    endocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of viral entry into host cell IDA
    Inferred from Direct Assay
    more info
    PubMed 
    protein autoprocessing IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein autoprocessing IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    proteolysis IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Component Evidence Code Pubs
    extracellular exosome HDA PubMed 
    integral component of plasma membrane TAS
    Traceable Author Statement
    more info
    PubMed 
    plasma membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 

    General protein information

    Preferred Names
    transmembrane protease serine 2
    Names
    epitheliasin
    serine protease 10
    transmembrane protease, serine 2
    NP_001128571.1
    NP_005647.3

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_047085.2 RefSeqGene

      Range
      27959..71812
      Download
      GenBank, FASTA, Sequence Viewer (Graphics), LRG_1368

    mRNA and Protein(s)

    1. NM_001135099.1NP_001128571.1  transmembrane protease serine 2 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) encodes the longer isoform (1).
      Source sequence(s)
      AA904080, AF270487, BC051839, DC382934
      Consensus CDS
      CCDS54486.1
      UniProtKB/Swiss-Prot
      O15393
      Related
      ENSP00000381588.3, ENST00000398585.7
      Conserved Domains (5) summary
      smart00020
      Location:292521
      Tryp_SPc; Trypsin-like serine protease
      cd00112
      Location:150185
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:293524
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam12868
      Location:4491
      DUF3824; Domain of unknwon function (DUF3824)
      pfam15494
      Location:190283
      SRCR_2; Scavenger receptor cysteine-rich domain
    2. NM_005656.4NP_005647.3  transmembrane protease serine 2 isoform 2

      See identical proteins and their annotated locations for NP_005647.3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) has an alternate 5' exon and uses a downstream AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter N-terminus, as compared to isoform 1.
      Source sequence(s)
      AF270487, AP001610, BC051839, BP276431
      Consensus CDS
      CCDS33564.1
      UniProtKB/Swiss-Prot
      O15393
      Related
      ENSP00000330330.5, ENST00000332149.10
      Conserved Domains (3) summary
      cd00112
      Location:113148
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
      cd00190
      Location:256487
      Tryp_SPc; Trypsin-like serine protease; Many of these are synthesized as inactive precursor zymogens that are cleaved during limited proteolysis to generate their active forms. Alignment contains also inactive enzymes that have substitutions of the catalytic triad ...
      pfam15494
      Location:153246
      SRCR_2; Scavenger receptor cysteine-rich domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109.20190905

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p13 Primary Assembly

    Genomic

    1. NC_000021.9 Reference GRCh38.p13 Primary Assembly

      Range
      41464305..41508158 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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